reabsorption. Germ-line inactivating mutations of CASR cause persistent hypercalcemia with inappropriately normal or elevated PTH along with low urinary calcium extraction, which results in three phenotypes that are usually dependent on an apparent gene
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Katsumi Taki, Takahiko Kogai, Junko Sakumoto, Takashi Namatame, and Akira Hishinuma
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, and Luis Castaño
calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. This disorder is caused by heterozygous loss-of-function mutations in the CASR gene (OMIM +601199) encoding the human calcium-sensing receptor (CaSR
Diana Festas Silva, Adriana De Sousa Lages, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, Leonor Gomes, Isabel Paiva, and Alice Mirante
://doi.org/10.3389/fphys.2016.00458 ) 6 Regala J Cavaco B Domingues R Limbert C Lopes L . Novel mutation in the CASR gene (p.Leu123Ser) in a case of autosomal dominant hypocalcemia . Journal of Pediatric Genetics 2015 4 29 – 33 . ( https
Marisa M Fisher, Susanne M Cabrera, and Erik A Imel
concentrations activate the CASR, diminishing parathyroid hormone (PTH) release and augmenting renal calcium excretion (2) . Inactivating CASR gene mutations lead to variable degrees of hypercalcemia. Heterozygous mutations usually result in mild hypercalcemia
E Mogas, A Campos-Martorell, M Clemente, L Castaño, A Moreno-Galdó, D Yeste, and A Carrascosa
need of bisphosphonates in severe neonatal hyperparathyroidism, caused by homozygous mutations with loss-of-function of the CASR gene ( 4 ). Ongoing studies are to determine whether its effect also benefits children with SHPT ( 5 , 6 ). However, no
Su Ann Tee, Paul Brennan, and Anna L Mitchell
variant in the CaSR gene (c.741dupT; p.[Asp248Ter]), which confirmed the diagnosis of FHH. Analysis of MEN1, CDKN1A, CDKN1B, CDKN2C and RET genes (exons 5, 7, 8, 10, 11, 13, 14-16) revealed no mutations. Outcome and follow-up The patient
Katsuo Tao, Midori Awazu, Misa Honda, Hironori Shibata, Takayasu Mori, Shinichi Uchida, Tomonobu Hasegawa, and Tomohiro Ishii
, patients with inactivating mutation of CASR have been reported to have normal concentrating ability ( 6 ). Furthermore, with the combination therapy of hydrochlorothiazide and celecoxib, the serum calcium decreased. This clinical course suggested that NDI
Benjamin Kwan, Bernard Champion, Steven Boyages, Craig F Munns, Roderick Clifton-Bligh, Catherine Luxford, and Bronwyn Crawford
Background ADH1 is a rare disorder arising from activating mutations of the calcium-sensing receptor gene ( CASR ). It is the mirror image of familial hypocalciuric hypercalcaemia and is characterised by hypocalcaemia with low or
Kirun Gunganah, Ashley Grossman, and Maralyn Druce
) (2) . Other complications include chondrocalcinosis, gallstones and osteoporosis (3) . It is well established that FHH is caused by inactivating mutations in the CASR gene, which reduce sensitivity to extracellular calcium. However, the mechanism
Satyanarayana V Sagi, Hareesh Joshi, Jamie Trotman, Terence Elsey, Ashwini Swamy, Jeyanthy Rajkanna, Nazir A Bhat, Firas J S Haddadin, Samson O Oyibo, and Soo-Mi Park
leads to increased renal tubular reabsorption of calcium resulting in hypocalciuria ( 6 ). In heterozygous individuals, loss of function mutations of CASR gene manifest as FHH1 or Marx–Auerbach syndrome. In 20% of FHH cases, the underlying genetic
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